PubMed:15000256
Annnotations
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 524 | 56-60 | GeneOrGeneProduct | denotes | FMR1 | NCBIGene:2332 |
| 525 | 69-77 | DiseaseOrPhenotypicFeature | denotes | autistic | MESH:D001321 |
| 526 | 82-99 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | MESH:D008607 |
| 527 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | MESH:D005600 |
| 528 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | MESH:D008607 |
| 529 | 207-215 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 530 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | MESH:D005600 |
| 531 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | MESH:D001321 |
| 532 | 371-375 | GeneOrGeneProduct | denotes | FMR1 | NCBIGene:2332 |
| 533 | 407-415 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 534 | 500-504 | GeneOrGeneProduct | denotes | FMR1 | NCBIGene:2332 |
| 535 | 530-538 | DiseaseOrPhenotypicFeature | denotes | autistic | MESH:D001321 |
| 536 | 542-559 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | MESH:D008607 |
| 537 | 699-707 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 538 | 729-736 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
| 539 | 802-839 | SequenceVariant | denotes | A to C substitution at nucleotide 879 | DBSNP:rs782013865 |
| 540 | 1103-1107 | GeneOrGeneProduct | denotes | FMR1 | NCBIGene:2332 |
| 541 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | MESH:D001321 |
| 542 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | MESH:D008607 |
| 543 | 1173-1181 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-118 | Sentence | denotes | Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. |
| T2 | 119-268 | Sentence | denotes | Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. |
| T3 | 269-467 | Sentence | denotes | It is usually caused by an expansion of the trinucleotide repeat in the 5'-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified. |
| T4 | 468-663 | Sentence | denotes | We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. |
| T5 | 664-708 | Sentence | denotes | No mutations were found in 76 male patients. |
| T6 | 709-850 | Sentence | denotes | However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9. |
| T7 | 851-894 | Sentence | denotes | This mutation was not found in 50 controls. |
| T8 | 895-1060 | Sentence | denotes | Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis. |
| T9 | 1061-1182 | Sentence | denotes | Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | 0010383 |
| T2 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | 0010383 |
| T3 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | 0005260 |
| T4 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | 0005260 |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 7-13 | GeneOrGeneProduct | denotes | strand |
| T2 | 56-60 | GeneOrGeneProduct | denotes | FMR1 |
| T3 | 119-128 | GeneOrGeneProduct | denotes | Fragile X |
| T4 | 129-137 | GeneOrGeneProduct | denotes | syndrome |
| T5 | 196-201 | GeneOrGeneProduct | denotes | males |
| T6 | 221-230 | GeneOrGeneProduct | denotes | fragile X |
| T7 | 231-239 | GeneOrGeneProduct | denotes | syndrome |
| T8 | 296-305 | GeneOrGeneProduct | denotes | expansion |
| T9 | 371-375 | GeneOrGeneProduct | denotes | FMR1 |
| T10 | 376-390 | GeneOrGeneProduct | denotes | gene, but in a |
| T11 | 391-396 | GeneOrGeneProduct | denotes | small |
| T12 | 430-435 | GeneOrGeneProduct | denotes | point |
| T13 | 436-445 | GeneOrGeneProduct | denotes | mutations |
| T14 | 480-483 | GeneOrGeneProduct | denotes | all |
| T15 | 500-504 | GeneOrGeneProduct | denotes | FMR1 |
| T16 | 514-523 | GeneOrGeneProduct | denotes | mutations |
| T17 | 575-585 | GeneOrGeneProduct | denotes | polymerase |
| T18 | 586-591 | GeneOrGeneProduct | denotes | chain |
| T19 | 614-620 | GeneOrGeneProduct | denotes | strand |
| T20 | 664-676 | GeneOrGeneProduct | denotes | No mutations |
| T21 | 694-698 | GeneOrGeneProduct | denotes | male |
| T22 | 780-786 | GeneOrGeneProduct | denotes | mutant |
| T23 | 799-808 | GeneOrGeneProduct | denotes | an A to C |
| T24 | 856-864 | GeneOrGeneProduct | denotes | mutation |
| T25 | 903-916 | GeneOrGeneProduct | denotes | transcription |
| T26 | 937-942 | GeneOrGeneProduct | denotes | large |
| T27 | 961-967 | GeneOrGeneProduct | denotes | mutant |
| T28 | 968-979 | GeneOrGeneProduct | denotes | transcripts |
| T29 | 985-992 | GeneOrGeneProduct | denotes | spliced |
| T30 | 1042-1049 | GeneOrGeneProduct | denotes | protein |
| T31 | 1080-1085 | GeneOrGeneProduct | denotes | point |
| T32 | 1086-1095 | GeneOrGeneProduct | denotes | mutations |
| T33 | 1103-1107 | GeneOrGeneProduct | denotes | FMR1 |
| T34 | 1113-1121 | GeneOrGeneProduct | denotes | may be a |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-60 | GeneOrGeneProduct | denotes | FMR1 |
| T2 | 119-128 | GeneOrGeneProduct | denotes | Fragile X |
| T3 | 129-137 | GeneOrGeneProduct | denotes | syndrome |
| T4 | 221-230 | GeneOrGeneProduct | denotes | fragile X |
| T5 | 231-239 | GeneOrGeneProduct | denotes | syndrome |
| T6 | 296-305 | GeneOrGeneProduct | denotes | expansion |
| T7 | 371-375 | GeneOrGeneProduct | denotes | FMR1 |
| T8 | 391-396 | GeneOrGeneProduct | denotes | small |
| T9 | 500-504 | GeneOrGeneProduct | denotes | FMR1 |
| T10 | 575-585 | GeneOrGeneProduct | denotes | polymerase |
| T11 | 586-591 | GeneOrGeneProduct | denotes | chain |
| T12 | 780-786 | GeneOrGeneProduct | denotes | mutant |
| T13 | 903-916 | GeneOrGeneProduct | denotes | transcription |
| T14 | 937-942 | GeneOrGeneProduct | denotes | large |
| T15 | 961-967 | GeneOrGeneProduct | denotes | mutant |
| T16 | 985-992 | GeneOrGeneProduct | denotes | spliced |
| T17 | 1042-1049 | GeneOrGeneProduct | denotes | protein |
| T18 | 1103-1107 | GeneOrGeneProduct | denotes | FMR1 |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | D005600 |
| T2 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T3 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | D005600 |
| T4 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T5 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T6 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-60 | GeneOrGeneProduct | denotes | FMR1 |
| T2 | 119-128 | GeneOrGeneProduct | denotes | Fragile X |
| T3 | 221-230 | GeneOrGeneProduct | denotes | fragile X |
| T4 | 296-305 | GeneOrGeneProduct | denotes | expansion |
| T5 | 371-375 | GeneOrGeneProduct | denotes | FMR1 |
| T6 | 500-504 | GeneOrGeneProduct | denotes | FMR1 |
| T7 | 1103-1107 | GeneOrGeneProduct | denotes | FMR1 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | 0010383 |
| T2 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | 0001071 |
| T3 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | 0010383 |
| T4 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | 0005260 |
| T5 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | 0005260 |
| T6 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | 0001071 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 207-215 | OrganismTaxon | denotes | patients |
| T2 | 407-415 | OrganismTaxon | denotes | patients |
| T3 | 699-707 | OrganismTaxon | denotes | patients |
| T4 | 729-736 | OrganismTaxon | denotes | patient |
| T5 | 1173-1181 | OrganismTaxon | denotes | patients |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 69-77 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T2 | 82-99 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T3 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | D005600 |
| T4 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T5 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | D005600 |
| T6 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T7 | 530-538 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T8 | 542-559 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T9 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T10 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 69-77 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T2 | 82-99 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T3 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | D005600 |
| T4 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T5 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | D005600 |
| T6 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T7 | 530-538 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T8 | 542-559 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T9 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T10 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T7 | 1103-1107 | GeneOrGeneProduct | denotes | FMR1 | |
| T6 | 500-504 | GeneOrGeneProduct | denotes | FMR1 | |
| T5 | 371-375 | GeneOrGeneProduct | denotes | FMR1 | |
| T4 | 296-305 | GeneOrGeneProduct | denotes | expansion | |
| T3 | 221-230 | GeneOrGeneProduct | denotes | fragile X | |
| T2 | 119-128 | GeneOrGeneProduct | denotes | Fragile X | |
| T1 | 56-60 | GeneOrGeneProduct | denotes | FMR1 | |
| T10 | 1142-1160 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T9 | 1131-1137 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T8 | 542-559 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T16460 | 530-538 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T50112 | 261-267 | DiseaseOrPhenotypicFeature | denotes | autism | D001321 |
| T56812 | 221-239 | DiseaseOrPhenotypicFeature | denotes | fragile X syndrome | D005600 |
| T39378 | 174-192 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T42164 | 119-137 | DiseaseOrPhenotypicFeature | denotes | Fragile X syndrome | D005600 |
| T37013 | 82-99 | DiseaseOrPhenotypicFeature | denotes | mentally retarded | DISEASE |
| T50736 | 69-77 | DiseaseOrPhenotypicFeature | denotes | autistic | DISEASE |
| T83780 | 1173-1181 | OrganismTaxon | denotes | patients | |
| T96597 | 729-736 | OrganismTaxon | denotes | patient | |
| T24290 | 699-707 | OrganismTaxon | denotes | patients | |
| T53741 | 407-415 | OrganismTaxon | denotes | patients | |
| T15217 | 207-215 | OrganismTaxon | denotes | patients |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 15000256-0#56#60#gene2332 | 56-60 | gene2332 | denotes | FMR1 |
| 15000256-0#69#77#diseaseC0004352 | 69-77 | diseaseC0004352 | denotes | autistic |
| 15000256-8#42#46#gene2332 | 1103-1107 | gene2332 | denotes | FMR1 |
| 15000256-8#81#99#diseaseC3714756 | 1142-1160 | diseaseC3714756 | denotes | mental retardation |
| 56#60#gene233269#77#diseaseC0004352 | 15000256-0#56#60#gene2332 | 15000256-0#69#77#diseaseC0004352 | associated_with | FMR1,autistic |
| 42#46#gene233281#99#diseaseC3714756 | 15000256-8#42#46#gene2332 | 15000256-8#81#99#diseaseC3714756 | associated_with | FMR1,mental retardation |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1103-1107 | gene:2477 | denotes | FMR1 |
| T1 | 1142-1160 | disease:C0025362 | denotes | mental retardation |
| T2 | 1103-1107 | gene:2332 | denotes | FMR1 |
| T3 | 1142-1160 | disease:C0025362 | denotes | mental retardation |
| R1 | T0 | T1 | associated_with | FMR1,mental retardation |
| R2 | T2 | T3 | associated_with | FMR1,mental retardation |